Genetic Diseases


Fragile X Syndrome

Introduction

Fragile X Syndrome is one of the most common genetic disorders. It is associated with mental retardation. The disease is caused due to deficiency of the gene located on the X chromosome in a human body. This defective gene prevents adequate protein production thereby hampering the development of the brain. This leads to a malnourished brain causing retardation and many other related disabilities. As a result this genetically inherited syndrome leads to mental retardation that gets revealed in the form of typical physical, intellectual, emotional and behavioural features.

Causes

Fragile X Syndrome is an acute form of mental retardation that can have several possible causes.

The known causes of the disease are mostly genetic. They are as under:

  • Crisis in the number of chromosomes produced
  • Repetition of genetic code that results in lack of production of protein
  • Defective gene leading to faulty enzymes
  • Exposure to excessive alcohol, poison, and diseases like rubella

Steps to follow

Till date there has not been any treatment that is definitive with respect to curing the syndrome. Nevertheless, treatment is available that can slow the pace of deterioration and better the state or condition of the patient. The severity of the symptoms can be minimized by means of quality treatment.

The following are measures that can be effective in fighting the syndrome:

  • Education - The right kind of education and physical therapy is effective in curtailing the effects of the disease. This induces self-help capabilities in a patient, even in those who are severely retarded. Proper physical and intellectual education should be introduced to a patient preferable right from childhood so that his brain gets inputs externally to develop to some extent. It is like a positive intervention mechanism that will expand potentials to patients suffering from fragile X syndrome. Besides, children affected by fragile X Syndrome are entitled to attain free education as per federal law which must be utilized. In the schools, mentally retarded children are ensured protection, affection and total participation and involvement in the classroom courses.
  • Therapy - Therapy is also quite a useful option. The therapeutic treatment can be of various kinds and all of them go a long way in minimizing the acuteness of fragile X syndrome. Speech language therapists can encourage patients to speak clearly bettering their pronunciations, verbal expressions etc. In this case visual aids prove to be beneficial in helping patients speak better. Occupational therapists are real friends of mentally retarded patients and help these patients identify the right kind of jobs for themselves. These therapists maintain a close watch on each and every movement and actions of the patients on the basis of which they identify the strengths and weaknesses of the patients and thus are able to suggest them appropriate occupations. Physical therapists are equally helpful in combating the syndrome. They help patients to improve posture and balance and help them strengthen their muscles and also encourage them to take part in sports. Lastly behavioural therapists also treat the syndrome chiefly mentally. The therapists try to minimize the negative and pessimistic thoughts in patients that lead to distress. In such cases therapists use ways to inspire and inculcate a zest for life.
  • Medicine -Medication is the ultimate option if the case is extremely acute and needs medical treatment. However, most of the drugs for treating fragile X syndrome have not yet been approved by the FDA. This is chiefly because most of these drugs lead to severe side effects that may bring a lot of discomfort to the patient.

Warnings

Once a person is diagnosed of fragile X syndrome, there would be a series of symptoms that would by seen in a patient. The most dangerous ones are reluctance to interact. The patients develop a tendency to close themselves in a shell and dwell in their world of negative thoughts. A caregiver must ensure that a patient is into social interaction and meet people and expresses his feelings. This would help him think healthy and positive that would benefit him in the long run.

Secondly, medical therapy is not a very good option for patients. This is chiefly because most of the drugs that are meant to treat fragile X syndrome have not been recognized by FDA. This is due to the harsh side effects of these drugs that may adversely affect patients. Thus, the best option is to combine medication with counseling and behavioral therapy to maintain a proper balance.

Tips

The following are the tips to avoid the wrath of fragile X syndrome to an extent:

  • Educate yourself about the common symptoms of the disease.
  • If diagnosed of the disease, it is best to start with therapeutic treatment at the earliest.
  • Avoid consumption of random drugs since they may involve acute side effects.
  • Consult a qualified physician immediately in case you experience symptoms matching the signs of the syndrome.

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